Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease

Neuromuscular Disorders

Volumn 12, Issue 4, 2002, Pages 386-391

  Sabatelli, M ^a   Quaranta, L ^a   Madia, F ^a   Lippi, G ^a   Conte, A ^a   Lo Monaco, M ^a   Di Trapani, G ^a   Rafi, M A ^b   Wenger, D A ^b   Vaccaro, A M ^c   Tonali, P ^a  

^a FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

Hypomyelination; Late onset Krabbe's disease; Nerve biopsy; Neuropathy

Indexed keywords

GALACTOSYLCERAMIDASE; LEUKOCYTE ENZYME;

ADULT; ARTICLE; CASE REPORT; CAUSE OF DEATH; CHROMOSOME BAND; CHROMOSOME DELETION; CLINICAL FEATURE; DELETION MUTANT; DISEASE ASSOCIATION; ELECTROPHYSIOLOGY; ENZYME DEFICIENCY; EXTRAPYRAMIDAL SYMPTOM; GLOBOID CELL LEUKODYSTROPHY; HETEROZYGOTE; HUMAN; MALE; MYELIN SHEATH; MYELINATION; NERVE BIOPSY; NERVE CONDUCTION; NERVE FIBER; NEUROLOGIC EXAMINATION; ONSET AGE; PATHOPHYSIOLOGY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RESPIRATORY FAILURE;

ADULT; AGE OF ONSET; BIOPSY; FAMILY HEALTH; HUMANS; LEUKODYSTROPHY, GLOBOID CELL; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MYELIN SHEATH; NUCLEAR FAMILY; PERIPHERAL NERVOUS SYSTEM DISEASES; SURAL NERVE;

EID: 0036226311     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00285-1     Document Type: Article

References (19)

1. Galactosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe disease)
2. Late onset globoid cell leukodystrophy
3. Late onset globoid cell leukodystrophy
4. Symptomatology of late-onset Krabbe's leukodystrophy: The European experience
5. Late onset Krabbe Disease (globoid cell leukodystrophy): Clinical and biochemical features of 15 cases
6. Late onset globoid cell leukodystrophy (Krabbe's disease) - Swedish case with 15 years of follow-up. Case report
7. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications
8. Protracted course of Krabbe disease in an adult patient bearing a novel mutation
9. Krabbe's presenting as a peripheral neuropathy
10. Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult onset of Krabbe disease
11. Krabbe disease (globoid cell leukodystrophy)
12. Adult onset Krabbe's disease in siblings with novel mutations in the galattocerebrosidase gene
13. Peripheral neuropathy in late-onset Krabbe's disease: Histochemical and ultrastructural findings
14. Galactosylceramide Lipidosis: Novel presentation as a slowly progressive spinocerebellar degeneration
15. Late onset Krabbe's leukodystrophy: A report of four cases
16. Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene
17. Globoid cell leukodystrophy: A family with both late-infantile and adult type
18. Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency
19. The Hypomyelinating neuropathies of mice and men